Skip to main content
Fig. 5 | Molecular Cytogenetics

Fig. 5

From: Complex X chromosome rearrangement associated with multiorgan autoimmunity

Fig. 5

X chromosomal genotypes of the mother and the patient. The Investigator Argus X-12 kit contains 12 X-chromosomal STR loci located on both arms of the X chromosome. Linkage group 1 (Xp22.31) contains DXS10148, DXS10135 and DXS8378, Linkage group 2 (Xq11.2-12) contains DXS7132, DXS10079 and DXS10074, Linkage group 3 (Xq26.2) contains DXS10103, HPRTB and DXS10101, and Linkage group 4 contains DXS10146, DXS10134 and DXS7423 loci, and they are inherited as haplotypes. Blue arrows point to the maternal and red arrows point to the paternal alleles. The first number under a peak designates the name of the allele, and the second number the height of the peak in RFU (Relative Fluorescence Unit). The peak heights of the mother’s alleles within a locus are very similar indicating equal template concentration during PCR. Contrary, the peak heights of the patient’s heterozygote alleles show discrepancy of the template DNA (approximately doubled paternal allele intensities). From the X-STR genotypes it can be concluded that the patient inherited intact maternal X chromosome and a rearranged paternal X chromosome with no short arm and two long arms

Back to article page